Variant report

Variant	esv1793644
Chromosome Location	chr7:14385632-14391369
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 238 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:238 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17774495	chr7:14385632-14385633	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs566494706	chr7:14385638-14385639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs56004436	chr7:14385709-14385710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558571828	chr7:14385715-14385716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569001786	chr7:14385767-14385768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531238243	chr7:14385785-14385786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs10234589	chr7:14385786-14385787	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs557570383	chr7:14385800-14385801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs577289620	chr7:14385833-14385834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs115256722	chr7:14385897-14385898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs142263715	chr7:14385903-14385904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs543017636	chr7:14385975-14385976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553363637	chr7:14385984-14385985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs571101662	chr7:14386011-14386012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs188649860	chr7:14386031-14386032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs79030485	chr7:14386108-14386109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564918152	chr7:14386166-14386167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs181386818	chr7:14386200-14386201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544371692	chr7:14386252-14386253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs116009734	chr7:14386295-14386296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529805633	chr7:14386449-14386450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs2099282	chr7:14386532-14386533	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs373853292	chr7:14386538-14386539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs367658912	chr7:14386569-14386570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs566805829	chr7:14386576-14386577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs147867079	chr7:14386593-14386594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs552246331	chr7:14386594-14386595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs2099281	chr7:14386607-14386608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373770417	chr7:14386658-14386659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186014868	chr7:14386684-14386685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567871403	chr7:14386731-14386732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs372013828	chr7:14386759-14386760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536413856	chr7:14386762-14386763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553137673	chr7:14386780-14386781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs573231301	chr7:14386781-14386782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545293641	chr7:14386843-14386844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558568564	chr7:14386864-14386865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs116766955	chr7:14386875-14386876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs56274576	chr7:14386911-14386912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs190722386	chr7:14386955-14386956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545196218	chr7:14386967-14386968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561189821	chr7:14386988-14386989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs530193966	chr7:14386999-14387000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs75030133	chr7:14387021-14387022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs141570087	chr7:14387062-14387063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs532486498	chr7:14387090-14387091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs36100361	chr7:14387103-14387104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182255915	chr7:14387163-14387164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs147050636	chr7:14387181-14387182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187213151	chr7:14387216-14387217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Myelofibrosis	22110671	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Pancreatic cancer	17952125	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Colorectal cancer	21645411	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:14383200-14390800	Weak transcription	Fetal Heart	heart
2	chr7:14390200-14391600	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr7:14390600-14391200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr7:14390600-14391200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr7:14390800-14391400	Enhancers	Fetal Heart	heart

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